一种罕见的关联：糖尿病母亲所生婴儿出现并腿畸形合并肾上腺增大。

A rare association: Sirenomelia with adrenalomegaly in an infant of diabetic mother.

作者信息

Ozturk M A, Bastug O, Halis H, Korkmaz L, Memur S, Sarici D, Kara A

机构信息

Erciyes University Medical Faculty, Department of Neonatology, Kayseri, Turkey.

Erciyes University Medical Faculty, Department of Pediatrics, Kayseri, Turkey.

出版信息

J Neonatal Perinatal Med. 2014 Jan 1;7(3):253-6. doi: 10.3233/NPM-1476813.

DOI:10.3233/NPM-1476813

PMID:25322991

Abstract

Sirenomelia or the Mermaid syndrome is a rare congenital anomaly with an incidence of one in 60,000 to 70,000 pregnancies. Sirenomelia is characterized by complete fusion of the lower limbs, commonly associated with renal agenesis, absent external genitalia and other gastrointestinal defects. A 37-week, 3040-g infant was born to a 35-year-old multigravida mother with type 2 diabetes mellitus and hyperlipidemia. To our knowledge, this is the first case of sirenomelia with adrenalomegaly.

摘要

美人鱼综合征或并腿畸形是一种罕见的先天性异常，在60000至70000次妊娠中的发生率为1例。美人鱼综合征的特征是下肢完全融合，通常伴有肾缺如、外生殖器缺如和其他胃肠道缺陷。一名37周、体重3040克的婴儿由一位患有2型糖尿病和高脂血症的35岁经产妇母亲分娩。据我们所知，这是首例伴有肾上腺肿大的美人鱼综合征病例。